Linked Data
dbSNP Id:
rs17879146
ExAC:
17:76219945 T / G
gnomAD v2:
17-76219945-T-G
gnomAD v3:
17-78223864-T-G
gnomAD v4:
17-78223864-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78223864T>G , CM000679.2:g.78223864T>G | GRCh38 |
| NC_000017.10:g.76219945T>G , CM000679.1:g.76219945T>G | GRCh37 |
| NC_000017.9:g.73731540T>G | NCBI36 |
| NG_029069.1:g.14669T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000350051.8:c.*310T>G MANE Select | ENSP00000324180.4:n.*310T>G | |
| ENST00000301633.8:c.*310T>G | ENSP00000301633.3:n.*310T>G | |
| ENST00000350051.7:c.*310T>G | ENSP00000324180.4:n.*310T>G | |
| ENST00000374948.6:c.*207T>G | ENSP00000364086.1:n.*207T>G | |
| NM_001012270.1:c.*207T>G | NP_001012270.1:n.*207T>G | |
| NM_001012271.1:c.*310T>G | NP_001012271.1:n.*310T>G | |
| NM_001168.2:c.*310T>G | NP_001159.2:n.*310T>G | |
| XR_243654.3:n.941T>G | ||
| XR_934452.1:n.1010T>G | ||
| XR_243654.5:n.941T>G | ||
| XR_934452.3:n.1010T>G | ||
| NM_001168.3:c.*310T>G MANE Select | NP_001159.2:n.*310T>G | |
| NM_001012270.2:c.*207T>G | NP_001012270.1:n.*207T>G | |
| NM_001012271.2:c.*310T>G | NP_001012271.1:n.*310T>G |